Variant report

Variant	rs557855918
Chromosome Location	chr15:72490176-72490177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72489503-72494887	PFSK-1	brain:	n/a	n/a
2	BCL3	chr15:72490013-72491688	A549	lung:	n/a	chr15:72491061-72491070
3	POLR2A	chr15:72490175-72491216	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr15:72490088-72490649	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr15:72489689-72496123	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:72489741-72491479	GM18951	blood:	n/a	n/a
7	ATF2	chr15:72490172-72491147	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:72489825-72491068	HUVEC	blood vessel:	n/a	n/a
9	GATA3	chr15:72489535-72490741	A549	lung:	n/a	n/a
10	JUND	chr15:72490008-72491276	HCT-116	colon:	n/a	n/a
11	BCL3	chr15:72489954-72491190	GM12878	blood:	n/a	chr15:72491061-72491070
12	YY1	chr15:72490168-72490436	HCT-116	colon:	n/a	chr15:72490213-72490227
13	NFATC1	chr15:72490115-72491343	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:72489927-72490809	MCF10A-Er-Src	breast:	n/a	n/a
15	PML	chr15:72490159-72491750	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:72490100-72491602	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:72490153-72497920	SK-N-SH	brain:	n/a	n/a
18	ELF1	chr15:72490164-72491149	GM12878	blood:	n/a	chr15:72490225-72490237
19	POLR2A	chr15:72489804-72494410	Hela-S3	cervix:	n/a	n/a
20	MTA3	chr15:72490165-72491179	GM12878	blood:	n/a	n/a
21	JUND	chr15:72490119-72490988	A549	lung:	n/a	n/a
22	E2F6	chr15:72489713-72490490	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
23	POLR2A	chr15:72490151-72491924	GM12891	blood:	n/a	n/a
24	POLR2A	chr15:72489826-72490183	GM12878	blood:	n/a	n/a
25	E2F6	chr15:72489998-72490616	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
26	PBX3	chr15:72489637-72490565	SK-N-SH	brain:	n/a	chr15:72490389-72490398 chr15:72490237-72490246
27	POLR2A	chr15:72489886-72496219	Hela-S3	cervix:	n/a	n/a
28	ATF2	chr15:72490170-72490548	H1-hESC	embryonic stem cell:	n/a	n/a
29	ELF1	chr15:72490122-72491028	A549	lung:	n/a	chr15:72490225-72490237
30	GABPA	chr15:72489697-72490523	H1-hESC	embryonic stem cell:	n/a	chr15:72490222-72490231
31	SMC3	chr15:72489764-72491276	Hela-S3	cervix:	n/a	chr15:72490300-72490310 chr15:72491235-72491243
32	TAF1	chr15:72490172-72490462	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr15:72488885-72491260	A549	lung:	n/a	chr15:72489274-72489282 chr15:72490265-72490275
34	POLR2A	chr15:72489678-72490662	A549	lung:	n/a	n/a
35	POLR2A	chr15:72488938-72491383	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:72488935-72491303	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr15:72489840-72490537	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr15:72488837-72501457	U87	brain:	n/a	n/a
39	STAT5A	chr15:72490175-72491046	GM12878	blood:	n/a	chr15:72490383-72490395 chr15:72490523-72490534 chr15:72490784-72490796
40	POLR2A	chr15:72490172-72491644	GM12878	blood:	n/a	n/a
41	ZNF143	chr15:72489729-72490608	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:72489945-72491044	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr15:72488735-72501628	U87	brain:	n/a	n/a
44	POLR2A	chr15:72490001-72501490	GM12891	blood:	n/a	n/a
45	POLR2A	chr15:72489686-72491941	H1-hESC	embryonic stem cell:	n/a	n/a
46	PBX3	chr15:72489068-72490810	A549	lung:	n/a	chr15:72490389-72490398 chr15:72490237-72490246
47	POLR2A	chr15:72489169-72490637	A549	lung:	n/a	n/a
48	JUND	chr15:72488981-72491319	A549	lung:	n/a	n/a
49	POLR2A	chr15:72490032-72493676	GM12878	blood:	n/a	n/a
50	NFYB	chr15:72490154-72490879	Hela-S3	cervix:	n/a	chr15:72490234-72490249 chr15:72490234-72490249

No.	Distal block	Cell Line	Cell type
1	chr15:72489508..72492052-chr15:72496693..72498858,2	MCF-7	breast:
2	chr15:72488199..72491266-chr15:72491481..72494588,4	MCF-7	breast:
3	chr15:72488604..72491164-chr15:72493836..72495912,3	MCF-7	breast:

Variant related genes	Relation type
GRAMD2	TF binding region
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	esv3409471	chr15:72488923-72491471	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72485200-72490400	Weak transcription	A549	lung
2	chr15:72485200-72490400	Weak transcription	HSMM	muscle
3	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:72487800-72490400	Weak transcription	GM12878-XiMat	blood
5	chr15:72488000-72490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:72488000-72491000	Weak transcription	K562	blood
7	chr15:72488400-72490400	Weak transcription	HSMMtube	muscle
8	chr15:72488800-72490600	Weak transcription	Dnd41	blood
9	chr15:72489000-72490200	Active TSS	Lung	lung
10	chr15:72489000-72490600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr15:72489000-72490600	Flanking Active TSS	HMEC	breast
12	chr15:72489000-72490800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr15:72489000-72491000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:72489200-72490200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:72489200-72490200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:72489200-72490200	Weak transcription	NH-A	brain
17	chr15:72489200-72490600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:72489200-72490600	Enhancers	Fetal Heart	heart
19	chr15:72489200-72491600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr15:72489400-72490200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:72489400-72490200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:72489400-72490200	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr15:72489400-72490200	Active TSS	Right Atrium	heart
24	chr15:72489400-72490400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr15:72489400-72490400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:72489400-72490400	Active TSS	Psoas Muscle	Psoas
27	chr15:72489400-72490600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr15:72489400-72490600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:72489400-72490600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:72489400-72490800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:72489600-72490200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:72489600-72490200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:72489600-72490200	Bivalent/Poised TSS	Thymus	Thymus
34	chr15:72489600-72490400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr15:72489600-72490400	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chr15:72489600-72490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:72489600-72490600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr15:72489600-72490600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr15:72489600-72490600	Active TSS	Brain Hippocampus Middle	brain
40	chr15:72489600-72491000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr15:72489800-72490200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:72489800-72490200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:72489800-72490200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:72489800-72490200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:72489800-72490200	Active TSS	Aorta	Aorta
46	chr15:72489800-72490200	Active TSS	Duodenum Mucosa	Duodenum
47	chr15:72489800-72490200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr15:72489800-72490200	Active TSS	Gastric	stomach
49	chr15:72489800-72490200	Active TSS	Left Ventricle	heart
50	chr15:72489800-72490200	Active TSS	Rectal Mucosa Donor 31	rectum

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